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Title: A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
Authors: Megarbane, Andre
Bizzari, Sami
Deepthi, Asha
Sabbagh, Sandra
Mansour, Hicham
Chouery, Eliane
Hmaimess, Ghassan
Jabbour, Rosette
Mehawej, Cybel
Alame, Saada
Hani, Abeer
Hasbini, Dana
Ghanem, Ismat
Koussa, Salam
Al-Ali, Mahmoud Taleb
Obeid, Marc
Talea, Diana Bou
Lefranc, Gerard
Lévy, Nicolas
Leturcq, France
El Hayek, Stephany
Delague, Valérie
Urtizberea, J Andoni
Affiliations: Faculty of Medicine 
Faculty of Medicine 
Keywords: CMT
Issue Date: 2022
Part of: Journal of Neuromuscular Diseases
Volume: 9
Issue: 1
Start page: 193
End page: 210
Clinical and molecular data on the occurrence and frequency of inherited neuromuscular disorders (NMD) in the Lebanese population is scarce.

This study aims to provide a retrospective overview of hereditary NMDs based on our clinical consultations in Lebanon.

Clinical and molecular data of patients referred to a multi-disciplinary consultation for neuromuscular disorders over a 20-year period (1999–2019) was reviewed.

A total of 506 patients were diagnosed with 62 different disorders encompassing 10 classes of NMDs. 103 variants in 49 genes were identified. In this cohort, 81.4% of patients were diagnosed with motor neuron diseases and muscular dystrophies, with almost half of these described with spinal muscular atrophy (SMA) (40.3% of patients). We estimate a high SMA incidence of 1 in 7,500 births in Lebanon. Duchenne and Becker muscular dystrophy were the second most frequently diagnosed NMDs (17% of patients). These disorders were associated with the highest number of variants (39) identified in this study. A highly heterogeneous presentation of Limb Girdle Muscular Dystrophy and Charcot-Marie-Tooth disease was notably identified. The least common disorders (5.5% of patients) involved congenital, metabolic, and mitochondrial myopathies, congenital myasthenic syndromes, and myotonic dystrophies. A review of the literature for selected NMDs in Lebanon is provided.

Our study indicates a high prevalence and underreporting of heterogeneous forms of NMDs in Lebanon- a major challenge with many novel NMD treatments in the pipeline. This report calls for a regional NMD patient registry.
ISSN: 22143599
DOI: 10.3233/JND-210652
Open URL: Link to full text
Type: Journal Article
Appears in Collections:Faculty of Medicine

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